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JUP Gene

protein-coding   GIFtS: 71
GCID: GC17M039776

Junction Plakoglobin

(Previous names: catenin (cadherin-associated protein), gamma 80kDa)
(Previous symbol: CTNNG)
  See JUP-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Junction Plakoglobin1 2     PDGB2 5
CTNNG1 2 3     DPIII2
DP32 3 5     PKGB2
Catenin (Cadherin-Associated Protein), Gamma 80kDa1 2     desmoplakin-32
Desmoplakin III2 3     Desmoplakin-33
ARVD122 5     Catenin Gamma3

External Ids:    HGNC: 62071   Entrez Gene: 37282   Ensembl: ENSG000001738017   OMIM: 1733255   UniProtKB: P149233   

Export aliases for JUP gene to outside databases

Previous GC identifers: GC17M039465 GC17M041960 GC17M039820 GC17M040284 GC17M037164 GC17M039910 GC17M035672


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for JUP Gene:
This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques
of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and
desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid
motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative
splicing occurs in this gene; however, not all transcripts have been fully described. (provided by RefSeq, Jul
2008)

GeneCards Summary for JUP Gene:
JUP (junction plakoglobin) is a protein-coding gene. Diseases associated with JUP include naxos disease, and arrhythmogenic right ventricular dysplasia 12. GO annotations related to this gene include transcription coactivator activity and protein homodimerization activity. An important paralog of this gene is CTNNB1.

UniProtKB/Swiss-Prot: PLAK_HUMAN, P14923
Function: Common junctional plaque protein. The membrane-associated plaques are architectural elements in an
important strategic position to influence the arrangement and function of both the cytoskeleton and the cells
within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests
that it plays a central role in the structure and function of submembranous plaques. Acts as a substrate for
VE-PTP and is required by it to stimulate VE-cadherin function in endothelial cells. Can replace beta-catenin in
E-cadherin/catenin adhesion complexes which are proposed to couple cadherins to the actin cytoskeleton (By
similarity)

Gene Wiki entry for JUP (Plakoglobin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the JUP gene promoter:
         AREB6   E2F-1   E2F   p53   HOXA5   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidJUP promoter sequence
   Search Chromatin IP Primers for JUP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat JUP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21   Ensembl cytogenetic band:  17q21.2   HGNC cytogenetic band: 17q21

JUP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
JUP gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M039776:  view genomic region     (about GC identifiers)

Start:
39,775,692 bp from pter      End:
39,943,183 bp from pter
Size:
167,492 bases      Orientation:
minus strand

1 alternative location:
Chr17-,NW_003571052 41,249-73,354     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PLAK_HUMAN, P14923 (See protein sequence)
Recommended Name: Junction plakoglobin  
Size: 745 amino acids; 81745 Da
Subunit: Homodimer. Component of an E-cadherin/catenin adhesion complex composed of at least E-cadherin/CDH1 and
gamma-catenin/JUP, and possibly alpha-catenin/CTNNA1; the complex is located to adherens junctions. The stable
association of CTNNA1 is controversial as CTNNA1 was shown not to bind to F-actin when assembled in the complex.
Interacts with MUC1. Interacts with CAV1 (By similarity). Interacts with PTPRJ. Interacts with DSG1. Interacts
with DSC1 and DSC2. Interacts with PKP2
Sequence caution: Sequence=AAH00441.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for JUP:
3IFQ (3D)    
Secondary accessions: Q15093 Q15151 Q7L3S5 Q86W21 Q9BWC4 Q9HCX9

Explore the universe of human proteins at neXtProt for JUP: NX_P14923

Explore proteomics data for JUP at MOPED

Post-translational modifications: 

  • May be phosphorylated by FER1
  • Glycosylation2 at Thr14
  • Modification sites at PhosphoSitePlus

  • See JUP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_002221.1  NP_068831.1  

    ENSEMBL proteins: 
     ENSP00000377507   ENSP00000311113   ENSP00000377508   ENSP00000389886   ENSP00000394146  
     ENSP00000411449   ENSP00000401034   ENSP00000468347   ENSP00000409948   ENSP00000467065  
     ENSP00000441751  
    Reactome Protein details: P14923

    JUP Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for JUP
    OriGene Protein Over-expression Lysate for JUP
    OriGene MassSpec for JUP
    OriGene Custom Protein Services for JUP
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    Novus Biologicals JUP Protein
    Novus Biologicals JUP Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for JUP

     
    Search eBioscience for Proteins for JUP 

     
    antibodies-online proteins for JUP (4 products) 

     
    antibodies-online peptides for JUP

    JUP Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of JUP
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for JUP  (desmoplakin 3)
    OriGene Antibodies for JUP
    OriGene Custom Antibody Services for JUP
    Novus Biologicals JUP Antibodies
    Abcam antibodies for JUP
    Cloud-Clone Corp. Antibodies for JUP
    ThermoFisher Antibody for JUP
    antibodies-online antibodies for JUP (158 products) 

    JUP Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for JUP
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for JUP
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for JUP
    Cloud-Clone Corp. CLIAs for JUP
    Search eBioscience for ELISAs for JUP 
    antibodies-online kits for JUP (13 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ARMC: Armadillo repeat containing

    4 InterPro protein domains:
     IPR011989 ARM-like
     IPR000225 Armadillo
     IPR013284 Beta-catenin
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry P14923

    ProtoNet protein and cluster: P14923

    2 Blocks protein domains:
    IPB000225 Armadillo repeat
    IPB000357 HEAT repeat


    UniProtKB/Swiss-Prot: PLAK_HUMAN, P14923
    Domain: The entire ARM repeats region mediates binding to CDH1/E-cadherin. The N-terminus and first three ARM
    repeats are sufficient for binding to DSG1. The N-terminus and first ARM repeat are sufficient for association
    with CTNNA1. DSC1 association requires both ends of the ARM repeat region
    Similarity: Belongs to the beta-catenin family
    Similarity: Contains 12 ARM repeats


    Find genes that share domains with JUP           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PLAK_HUMAN, P14923
    Function: Common junctional plaque protein. The membrane-associated plaques are architectural elements in an
    important strategic position to influence the arrangement and function of both the cytoskeleton and the cells
    within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests
    that it plays a central role in the structure and function of submembranous plaques. Acts as a substrate for
    VE-PTP and is required by it to stimulate VE-cadherin function in endothelial cells. Can replace beta-catenin in
    E-cadherin/catenin adhesion complexes which are proposed to couple cadherins to the actin cytoskeleton (By
    similarity)

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity IDA14661054
    GO:0005198structural molecule activity NAS--
    GO:0005199structural constituent of cell wall IC7650039
    GO:0005488binding ----
    GO:0005515protein binding IPI10801826
         
    Find genes that share ontologies with JUP           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for JUP:
     Decreased cell spreading 

         12 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Jup):
     cardiovascular system  cellular  embryogenesis  growth/size/body  homeostasis/metabolism 
     immune system  integument  liver/biliary system  mortality/aging  muscle 
     nervous system  respiratory system 

    Find genes that share phenotypes with JUP           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for JUP: Juptm1Kem Juptm1Ruiz Juptm1.2Glr

       genOway: Develop your customized and physiologically relevant rodent model for JUP

    miRNA
    Products:
        
    miRTarBase miRNAs that target JUP:
    hsa-mir-335-5p (MIRT016884), hsa-mir-1 (MIRT023549), hsa-mir-124-3p (MIRT022247), hsa-mir-155-5p (MIRT020514), hsa-mir-615-3p (MIRT039967), hsa-mir-30a-5p (MIRT028441), hsa-mir-30c-5p (MIRT047927)

    Block miRNA regulation of human, mouse, rat JUP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate JUP (see all 15):
    hsa-miR-601 hsa-miR-548d-3p hsa-miR-300 hsa-miR-1914* hsa-miR-381 hsa-miR-133b hsa-miR-548aa hsa-miR-3157-5p
    SwitchGear 3'UTR luciferase reporter plasmidJUP 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for JUP
    Predesigned siRNA for gene silencing in human, mouse, rat JUP

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for JUP

    Clone
    Products:
         
    OriGene clones in human, mouse for JUP (see all 13)
    OriGene ORF clones in mouse, rat for JUP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): JUP (NM_021991)
    Sino Biological Human cDNA Clone for JUP
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for JUP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat JUP
    Addgene plasmids for JUP 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for JUP
    Browse ESI BIO Cell Lines and PureStem Progenitors for JUP 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JUP


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PLAK_HUMAN, P14923: Cell junction, adherens junction. Cell junction, desmosome. Cytoplasm, cytoskeleton.
    Membrane; Peripheral membrane protein. Note=Cytoplasmic in a soluble and membrane-associated form
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus4
    plasma membrane4
    cytosol3
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 26):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IMP14661054
    GO:0005667NOT transcription factor complex IKR--
    GO:0005737cytoplasm IMP14661054
    GO:0005829cytosol ISS--
    GO:0005856cytoskeleton ISS--

    Find genes that share ontologies with JUP           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for JUP About   (see all 17)  
    See pathways by source

    SuperPathContained pathways About
    1Hypertrophic cardiomyopathy (HCM)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Arrhythmogenic right ventricular cardiomyopathy0.54
    2Cell junction organization
    Cell junction organization0.70
    Cell-Cell communication0.64
    Cell-cell junction organization0.70
    Adherens junctions interactions0.49
    3Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Germ Cell-Sertoli Cell Junction Dynamics0.38
    4Endometrial cancer
    Acute myeloid leukemia0.40
    5Wnt signaling pathway (KEGG)
    Wnt Signaling Pathway NetPath0.37


    Find genes that share SuperPaths with JUP           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for JUP
        Sertoli-Sertoli Cell Junction Dynamics
    Internalin Pathway
    Germ Cell-Sertoli Cell Junction Dynamics
    Epithelial Adherens Junctions

    1 Cell Signaling Technology (CST) Pathway for JUP
        Adhesion

    3 GeneGo (Thomson Reuters) Pathways for JUP
        Cell adhesion Endothelial cell contacts by non-junctional mechanisms
    Cell adhesion Endothelial cell contacts by junctional mechanisms
    Cell adhesion Cadherin-mediated cell adhesion

    5 BioSystems Pathways for JUP
        Wnt Signaling Pathway NetPath
    Corticotropin-releasing hormone
    Arrhythmogenic right ventricular cardiomyopathy
    Arf6 trafficking events
    E-cadherin signaling in the nascent adherens junction


    1 Reactome Pathway for JUP
        Adherens junctions interactions

    1 PharmGKB Pathway for JUP
        Antiarrhythmic Pathway, Pharmacodynamics

    4 Kegg Pathways  (Kegg details for JUP):
        Pathways in cancer
    Transcriptional misregulation in cancer
    Acute myeloid leukemia
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)

        Pathway & Disease-focused RT2 Profiler PCR Arrays including JUP: 
              Adherens Junctions in human mouse rat
              Cell Junction PathwayFinder in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for JUP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for JUP (P149231, 2, 3 ENSP000003111134) via UniProtKB, MINT, STRING, and/or I2D (see all 264)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARHGDIAP525652, 3, ENSP000002693214MINT-63856 I2D: score=5 STRING: ENSP00000269321
    TCF7L2Q9NQB01, 3, ENSP000003584044EBI-702484,EBI-924724 I2D: score=2 STRING: ENSP00000358404
    PECAM1P162841, 3EBI-702484,EBI-716404 I2D: score=3 
    ZFYVE9O954052, 3MINT-62056 I2D: score=3 
    WDYHV1Q96HA81, 2, 3, ENSP000002873874EBI-702484,EBI-741158 MINT-66801 I2D: score=5 STRING: ENSP00000287387
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 37):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122NOT negative regulation of transcription from RNA polymerase II promoter IKR--
    GO:0000902cell morphogenesis IBA--
    GO:0002009morphogenesis of an epithelium ----
    GO:0002159desmosome assembly IMP--
    GO:0003136negative regulation of heart induction by canonical Wnt signaling pathway IBA--

    Find genes that share ontologies with JUP           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for JUP (PLAK)

    Selected Novoseek inferred chemical compound relationships for JUP gene (see all 20)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-aza-2'deoxycytidine 51.5 10 16887905 (2), 14562048 (1), 16537559 (1), 18974268 (1) (see all 5)
    alpha e 50.5 1 12454392 (1)
    tyrosine 48.5 70 11710913 (6), 11371122 (5), 14517306 (4), 11777936 (3) (see all 31)
    phosphotyrosine 33.9 2 9378757 (1)
    ryanodine 11.3 3 11716909 (1), 19205777 (1)
    phalloidin 8.32 1 10075198 (1)
    estrogen 5.22 1 17575143 (1)
    vegf 4.69 6 16149139 (2), 19015309 (1), 9625748 (1), 15306099 (1) (see all 5)
    p002 3.7 2 15916880 (1), 16445817 (1)
    oligonucleotide 0 4 9476558 (2)



    Find genes that share compounds with JUP           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for JUP gene (2 alternative transcripts): 
    NM_002230.2  NM_021991.2  

    Unigene Cluster for JUP:

    Junction plakoglobin
    Hs.514174  [show with all ESTs]
    Unigene Representative Sequence: BX648177
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000393930(uc002hxq.2) ENST00000310706(uc010wfs.2 uc002hxr.2)
    ENST00000393931(uc002hxs.2) ENST00000585793 ENST00000449889 ENST00000437187
    ENST00000420370 ENST00000424457 ENST00000591690 ENST00000437369 ENST00000589036
    ENST00000465293 ENST00000540235
    miRNA
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    Block miRNA regulation of human, mouse, rat JUP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate JUP (see all 15):
    hsa-miR-601 hsa-miR-548d-3p hsa-miR-300 hsa-miR-1914* hsa-miR-381 hsa-miR-133b hsa-miR-548aa hsa-miR-3157-5p
    SwitchGear 3'UTR luciferase reporter plasmidJUP 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat JUP
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): JUP (NM_021991)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for JUP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat JUP
    Addgene plasmids for JUP 
    Primer
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    OriGene qPCR primer pairs and template standards for JUP
    OriGene qSTAR qPCR primer pairs in human, mouse for JUP
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat JUP
      QuantiTect SYBR Green Assays in human, mouse, rat JUP
      QuantiFast Probe-based Assays in human, mouse, rat JUP

    Additional mRNA sequence: 

    AK226051.1 AY243535.1 BC000441.2 BX648177.1 M23410.1 Z68228.1 

    20 DOTS entries:

    DT.316762  DT.95310616  DT.92451789  DT.95353325  DT.95148127  DT.95222134  DT.100797771  DT.97862399 
    DT.100797760  DT.100038510  DT.100797766  DT.92451794  DT.95142885  DT.95329446  DT.99945191  DT.100797763 
    DT.120971183  DT.40133252  DT.87014380  DT.92451791 

    Selected AceView cDNA sequences (see all 610):

    BQ268357 BC000441 BM847323 BM847717 BF772830 AI763184 BQ690280 BX090907 
    CF125737 BU180183 BQ688097 BU163269 BM768637 CA388628 AA777981 CF125157 
    BE902339 BQ686960 BF590557 BE857137 BQ420655 BE886836 BM789410 CA489074 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for JUP (see all 13)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^
    SP1:                                -     -     -     -     -     -     -           -                                                                           
    SP2:        -     -     -     -     -     -     -     -     -     -     -           -                                                                           
    SP3:                                                                                                                                                            
    SP4:                                -     -     -     -     -     -     -           -                       -     -     -     -     -                           
    SP5:                                                                                -                                                                           

    ExUns: 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21
    SP1:                    -                                 
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for JUP

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    JUP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGTGGGGGG
    JUP Expression
    About this image


    JUP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Tooth (Integumentary System)    fully expand to see all 5 entries
             Early Ameloblasts Dental Enamel
     
     Epithelial Cells
             Early Ameloblasts Dental Enamel
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Corneal Epithelium
     
     Lung (Respiratory System)
             Trachea
    JUP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    JUP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.514174
        Pathway & Disease-focused RT2 Profiler PCR Arrays including JUP: 
              Adherens Junctions in human mouse rat
              Cell Junction PathwayFinder in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for JUP gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Jup1 , 5 junction plakoglobin1, 5 89.62(n)1
    98.39(a)1
      11 (63.47 cM)5
    164801  NM_010593.21  NP_034723.11 
     1003689585 
    chicken
    (Gallus gallus)
    Aves JUP1 junction plakoglobin 85.2(n)
    90.28(a)
      429710  NM_001267553.1  NP_001254482.1 
    lizard
    (Anolis carolinensis)
    Reptilia JUP6
    junction plakoglobin
    87(a)
    1 ↔ 1
    6(71138167-71214877)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.28442 Xenopus laevis plakoglobin mRNA, complete cds 77(n)    M95593.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003308861 junction plakoglobin-like 72.01(n)
    75.18(a)
      100330886  XM_002665476.3  XP_002665522.2 
    worm
    (Caenorhabditis elegans)
    Secernentea hmp-23 Armadillo/beta-catenin-like repeats (4
    domains)
    34(a)
    (best of 2)
      I(14747632-14750563)   --


    ENSEMBL Gene Tree for JUP (if available)
    TreeFam Gene Tree for JUP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for JUP gene
    CTNNB12  
    Selected SIMAP similar genes for JUP using alignment to 9 protein entries:     PLAK_HUMAN (see all proteins) (see all similar genes):
    GUCA1B    keratin    KRT16    KRT15    KRT13    KRT10
    type I hair keratin    K14    KRT17    KRT14    KRT33A    KRT19
    KRT20    KRT9    KRT12    KRT34    KRT37    KRTHA7

    Find genes that share paralogs with JUP           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for JUP (see all 921)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0656984
    Arrhythmogenic right ventricular dysplasia, familial, 12 (ARVD12)4--see VAR_0656982 T I mis40--------
    rs11268211,2,,4
    C,F,Hnon-pathogenic140700954(-) CAGACT/ATGGAT 4 /M /L mis119Minor allele frequency- A:0.32NS EA NA WA CSA EU 6471
    rs22304071,2
    C,F,Hnon-pathogenic140712483(-) ACCACC/G/TGACTG 4 T syn113NA NS CSA WA EU 7084
    rs1167725231,2
    C,Funknown140702859(+) GAGGGG/AACGTG 2 -- int11Minor allele frequency- A:0.08WA 118
    rs1939227051,2
    C,Funknown140712435(-) GTGGGC/TCCTCC 2 -- int11Minor allele frequency- T:0.01EU 1011
    rs1410100711,2
    C--39912259(+) CCTGA-/CCCCCT 2 -- int10--------
    rs603469851,2
    C--39920786(+) GTCAGGAAA/-  
            
    AAAAA
    2 -- int11Minor allele frequency- -:0.00NA 2
    rs3744662471,2
    C--39924656(+) AAAAC-/AAAAAAA 2 -- int10--------
    rs114273311,2
    C--39926159(+) GGGAA-/T/TT  
            
    TTTTT
    2 -- int1 trp31CSA 2
    rs353369121,2
    C--39934811(+) ATCTC-/AAAAAAA 2 -- int10--------

    HapMap Linkage Disequilibrium report for JUP (39775692 - 39943183 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for JUP:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv3168n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): JUP
    Locus Specific Mutation Databases (LSDB): JUP

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing JUP
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 173325   
    OMIM disorders: 601214  611528  
    UniProtKB/Swiss-Prot: PLAK_HUMAN, P14923
  • Naxos disease (NXD) [MIM:601214]: An autosomal recessive disorder characterized by the association of
    diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiac abnormalities such as dilated
    cardiomyopathy and arrhythmogenic right ventricular dysplasia. Note=The disease is caused by mutations affecting
    the gene represented in this entry
  • Arrhythmogenic right ventricular dysplasia, familial, 12 (ARVD12) [MIM:611528]: A congenital heart
    disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of
    myocardial cells, resulting in ventricular and supraventricular arrhythmias. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 15 diseases for JUP:    
    About MalaCards
    naxos disease    arrhythmogenic right ventricular dysplasia 12    arrhythmogenic right ventricular dysplasia/cardiomyopathy12    epidermolysis bullosa, lethal acantholytic
    pemphigus vulgaris    sarcomatoid renal cell carcinoma    hailey-hailey disease    epithelioid sarcoma
    familial isolated arrhythmogenic ventricular dysplasia, biventricular form    familial isolated arrhythmogenic ventricular dysplasia, right dominant form    paraneoplastic pemphigus    familial isolated arrhythmogenic ventricular dysplasia, left dominant form
    chordoma    bladder carcinoma    pemphigus

    3 diseases from the University of Copenhagen DISEASES database for JUP:
    Arrhythmogenic right ventricular dysplasia     Keratosis     Hailey-Hailey disease

    Find genes that share disorders with JUP           About GenesLikeMe

    Selected Novoseek inferred disease relationships for JUP gene (see all 95)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    naxos disease 89.6 15 15851108 (3), 10902626 (2), 11691526 (2), 16096717 (1) (see all 11)
    carvajal syndrome 82.8 1 19558499 (1)
    arrhythmogenic right ventricular dysplasia 81.9 15 16893920 (2), 10902626 (1), 20130592 (1), 17413274 (1) (see all 12)
    acantholysis 77.2 5 11553312 (2), 11125324 (1), 12358812 (1), 11334462 (1)
    pemphigus vulgaris 75.3 12 9521500 (3), 12358812 (3), 11125324 (1), 7738346 (1) (see all 8)
    keratoderma palmoplantar 72.7 8 10902626 (2), 17045679 (2), 18957847 (1), 16414451 (1) (see all 6)
    hailey-hailey disease 62.2 4 9521500 (3), 1419753 (1)
    pemphigus 62 4 10427986 (1), 1419753 (1), 11251577 (1)
    familial adenomatous polyposis 60.3 7 10408833 (1), 10207085 (1), 11407474 (1), 10996845 (1) (see all 7)
    darier disease 58.9 5 9521500 (3), 7537767 (1), 1419753 (1)

    GeneTests: JUP
    GeneReviews: JUP
    Genetic Association Database (GAD): JUP
    Human Genome Epidemiology (HuGE) Navigator: JUP (4 documents)

    Export disorders for JUP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for JUP gene, integrated from 10 sources (see all 653):
    (articles sorted by number of sources associating them with JUP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PubMed id 20031617)1, 2, 4, 9 den Haan A.D.... Judge D.P. (Circ. Cardiovasc. Genet. 2009)
    2. Tyrosine phosphorylation of plakoglobin causes contrary effects on its association with desmosomes and adherens junction components and modulates beta-catenin-mediated transcription. (PubMed id 14517306)1, 2, 9 Miravet S....Garcia de Herreros A. (Mol. Cell. Biol. 2003)
    3. A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. (PubMed id 17924338)1, 2, 9 Asimaki A....McKenna W.J. (Am. J. Hum. Genet. 2007)
    4. Plakoglobin is O-glycosylated close to the N-terminal destruction box. (PubMed id 12847106)1, 2, 9 Hatsell S....Cowin P. (J. Biol. Chem. 2003)
    5. Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP). (PubMed id 1889810)1, 3, 9 Arnemann J....Buxton R.S. (Genomics 1991)
    6. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). (PubMed id 10902626)1, 2, 9 McKoy G....McKenna W.J. (Lancet 2000)
    7. The human plakoglobin gene localizes on chromosome 17q21 and is subjected to loss of heterozygosity in breast and ovarian cancers. (PubMed id 7604000)1, 3, 9 Aberle H....Lynch H.T. (Proc. Natl. Acad. Sci. U.S.A. 1995)
    8. Genomic organization and amplification of the human plakoglobin gene (JUP). (PubMed id 11016852)1, 2, 9 Whittock N.V.... McGrath J.A. (Exp. Dermatol. 2000)
    9. Lower than expected desmosomal gene mutation prevalence in endurance athletes with complex ventricular arrhythmias of right ventricular origin. (PubMed id 20525856)1, 4 La Gerche A....HeidbA1chel H. (Heart 2010)
    10. Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. (PubMed id 20400443)1, 4 Fressart V....Charron P. (Europace 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3728 HGNC: 6207 AceView: JUP Ensembl:ENSG00000173801 euGenes: HUgn3728
    ECgene: JUP Kegg: 3728 H-InvDB: JUP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for JUP Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for JUP Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=JUP[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for JUP gene:
    Search GeneIP for patents involving JUP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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